Biomedical subjects

D Rodriguez

Publications and source records attributed to D Rodriguez.

At least 73 records · Page 4Linked to original sources

PubMed1999

[Importance of multidisciplinary consultations for children with neurofibromatosis].

Over a one year period, the multidisciplinary consultation of the Saint-Vincent-de-Paul Hospital for neurofibromatosis examined 26 children. Twenty-two children underwent an ophthalmological examination (21 NF1, 1 NF2). Lisch nodule was the most frequent symptom (12 cases) and corneal nerves were visible in 3 cases. We had only one case of retinal and choroidal hamartoma. Glioma was a frequent symptom (5 cases). Other signs were uncommon. The case of NF2 showed a 3rd nerve palsy and lens droplets. Our evaluation confirms the frequency of Lisch nodules as the most frequent symptom of NF1. The visibility of corneal nerves and hamartoma are suggestive signs. The glioma number fits well with its statistical frequency. One year evaluation of our NF clinic allows us to confirm the relative frequency of the different signs associated with neurofibromatosis. It emphasizes the importance of teaching its diagnosis and follow-up to ophthalmologists.

Adolescent↗

PubMed1998

Polymerase chain reaction typing of D21S11 short tandem repeat polymorphism by capillary electrophoresis. Allele frequencies and sequencing data in a population sample from central Italy.

Blood samples were collected from 100 individuals living in Central Italy and analysed for STR locus D21S11 by capillary electrophoresis on an ABI Prism 310 genetic analyzer. For fragment sizing, PCR amplification products, obtained using a 6-FAM 5'-labeled reverse primer and an unlabeled forward primer, were run with an internal size standard labeled with TAMRA dye and typed using the local reciprocal method. An allele ladder consisting of a mix of sequenced amplified products was also prepared. An Italian population database was established. No deviation from Hardy-Weinberg equilibrium was observed. The result of statistical analysis were highly informative (PD = 0.94; mean exclusion change = 0.66). DNA sequencing was performed on a set of representative alleles by Taq cycle sequencing using dye terminator labeling chemistry. A new structural variant was found.

Alleles↗

PubMed1998

Recombinant viruses expressing a human malaria antigen can elicit potentially protective immune CD8+ responses in mice.

Extensive studies on protective immunity to rodent malaria provided the basis for the current experiments in which mice were immunized with recombinant (re) influenza and vaccinia viruses expressing selected sequences of the circumsporozoite (CS) protein of the human malaria parasite Plasmodium falciparum. Mice of different H-2 haplotypes immunized with re influenza viruses expressing the immunodominant B cell epitope of this CS protein produced high titers of antibodies to the parasite. A cytotoxic T lymphocyte epitope of the CS protein of P. falciparum, PF3, recognized by CD8+ T cells of H-2(k) mice, was expressed in a re vaccinia virus (VacPf) and a re influenza virus (FluPf). Immunization of mice with either FluPf or VacPf elicited a modest CS-specific CD8+ T cell response detected by interferon gamma secretion of individual immune cells. Priming of mice with FluPf, followed by a booster with VacPf, resulted in a striking enhancement of this T cell response. The reverse protocol, i.e., priming with VacPf followed by a booster with FluPf, failed to enhance the primary response. VacPf also greatly enhanced the primary response of mice injected with P. falciparum sporozoites or with a lipopeptide containing PF3. A booster with FluPf also amplified the response of lipopeptide- or sporozoite-primed mice but less than a VacPf booster did. Although mice are not susceptible to infection by P. falciparum sporozoites, we demonstrated that administration of two distinct immunogens expressing PF3 elicited activated, extravasating CS-specific T cells that protected against an intracerebral VacPf challenge.

Amino Acid Sequence↗

PubMed1998

In vivo diagnosis of Kufs' disease by extracerebral biopsies.

In almost all of the earlier reported cases of Kufs' disease, the adult form of ceroid lipofuscinosis, the diagnosis was ascertained by cerebral tissue examination, while peripheral biopsy examination revealed an apparent poor diffusion of specific lipofuscinic deposits, the finger print profiles (FPs). We report the ultrastructural data from skin, muscle and rectal biopsy specimens from two siblings, both still living, who present clinical features of Kufs' disease. We observed the presence of FPs in locations that differ from the previous classic reports. Our results emphasize the value of extracerebral biopsies for the diagnosis of Kufs' disease in vivo, and suggest some physiopathological assumptions based on vascular wall involvement.

Adult↗

PubMed1998

Long-term follow up of 69 patients treated for optic pathway tumours before the chemotherapy era.

AIM: To analyse the long-term results of conservative management with radiotherapy in patients with optic pathway tumours. DESIGN: All 69 patients were symptomatic at diagnosis and most neoplasms involved the optic chiasm and hypothalamus. RESULTS: At 10 years, overall survival and progression free survival were 83% and 65.5%, respectively. After radiotherapy, vision improved in 18 patients and remained stable in 29 other patients. Cerebrovascular complications occurred in nine of 53 patients treated with radiotherapy after a median interval of two and a half years. These complications were five times more frequent in patients with neurofibromatosis type 1 (NF1). Severe intellectual disabilities were present in 18 children, most of whom underwent irradiation at a very young age (median age, 4 years). IMPLICATIONS: Radiotherapy is a valuable treatment in terms of tumour response, visual outcome, and progression free survival. However, in young children and in patients with NF1, major sequelae are encountered and new treatment strategies should be proposed for these patients.

Adolescent↗

PubMed1998

Retrospective review of treatment outcome for 63 patients with trichotillomania.

OBJECTIVE: The authors' goal was to assess naturalistic treatment outcome in trichotillomania. METHOD: Sixty-three patients who had been treated in a specialty clinic for trichotillomania over a period of 6 years were contacted. The patients were given paper-and-pencil instruments that assessed current severity of hairpulling, depression, anxiety, self-esteem, and psychosocial functioning. RESULTS: Significant mean improvement was found on measures of hairpulling, depression, anxiety, self-esteem, and psychosocial functioning. Improvement in hairpulling was associated with greater depression at the time of their index clinic evaluation as well as more improvement in depression after treatment. CONCLUSIONS: State-of-the-art behavioral and pharmacological treatments offer substantial clinical benefit to patients with trichotillomania, both in hairpulling symptoms and ancillary measures of functioning.

Adolescent↗

PubMed1998

Polymorphism and sequence variations of the HumCD4 pentameric microsatellite in an Italian population sample.

A sample of 265 subjects from central Italy was analyzed at the HumCD4 locus by polymerase-chain-reaction (PCR). Phenotypes were identified by comparison with a sequenced ladder, after high-resolution horizontal polyacrylamide gel electrophoresis (PAGE) followed by silver staining. A set of representative alleles was sequenced by Taq-cycle-sequencing with dye terminator labeling and capillary gel electrophoresis strategies. Eight common alleles--5, 6, 7, 8, 9, 10, 11, 12--and a rare larger 14, never before described in Caucasians, were found. Allele and genotype frequencies were similar to those described in former studies on Caucasians, with a prevalency of alleles number 5, 6, 10. Sequence analysis showed that the polymorphism is due to a pentameric TTTTC basic motif, tandemly repeated, and that from allele number 10 onwards the fourth repeat presents a T to C translation (CTTTC). Instead, allele number 9 may exist in two forms, because 75% of alleles examined in this study presented the CTTTC motif at the fourth position, while the remaining 25% had the basic repeat structure.

Alleles↗

PubMed1997

Bcl-2 prevents nitric oxide-mediated apoptosis and poly(ADP-ribose) polymerase cleavage.

Toxic effects of nitric oxide (NO) were suggested to be mediated by its metabolite peroxynitrite, a strong oxidizing agent. To determine if antioxidative effects of Bcl-2 protooncogene can prevent NO-mediated apoptosis, we used vaccinia virus recombinants expressing mouse inducible NO-synthase, iNOS, or human bcl-2 genes. Expression of iNOS in HeLa G cells induces apoptosis which can be prevented by co-expression of bcl-2 or by addition of reduced glutathione or N-acetylcysteine. We demonstrate that this NO-induced apoptosis proceeds through the activation of interleukin-1 beta-converting enzyme-like proteases and cleavage of the poly(ADP-ribose) polymerase, an effect which is also prevented by Bcl-2.

Acetylcysteine↗

PubMed1997

Sartorius myoplasty for infected vascular grafts in the groin. Safe, durable, and effective.

OBJECTIVE: To review the safety, durability, and efficacy of sartorius myoplasty in the treatment of localized vascular prosthetic graft infection in the groin. DESIGN: Case series. SETTING: University teaching hospitals. PATIENTS: Fourteen patients with 15 exposed, eroded, or overtly infected prosthetic vascular grafts in the groin, treated during 7 years. INTERVENTIONS: Groin exploration for delineation of the extent of vascular graft infection, followed by extensive perigraft debridement, then dissection and rotation of the ipsilateral sartorius muscle to cover the involved graft. MAIN OUTCOME MEASURES: Healing of groin wound with preservation of vascular graft function, limb salvage, length of hospital stay, impact of specific wound bacteria, and evidence of long-term hip dysfunction. RESULTS: During a mean hospital stay of 8.7 days, sartorius myoplasty was accomplished with 20% morbidity. Hip flexor function was initially impaired in all 14 patients, but functional deficit was negligible at late assessment. During mean follow-up of 36 months, all wounds were healed, and all limbs were salvaged. Two late deaths occurred, and 2 limbs were ultimately amputated due to progressive loss of vascular outflow. CONCLUSION: Sartorius myoplasty is a simple, safe, durable, and effective technique for preservation of locally infected or exposed vascular grafts in the groin.

Adult↗

PubMed1997

Antenatal thalamic lesions in the newborn: two anatomoclinical cases.

We report two cases of antenatal bilateral thalamic lesions constituted by neuronal loss, gliosis and mineralized glial or neuronal cells. No etiology could be found. Neuroradiological findings were poorly correlated with histological changes. These cases are compared with the few previously reported cases of the same condition. We strongly recommend extensive etiological investigation as recurrence occurred in one family.

Brain↗

PubMed1997

[Idiopathic peri-cerebral enlargement in infants: simple anatomical variant or hemorrhagic risk factor?].

BACKGROUND: Idiopathic subarachnoid space enlargement (ISSE) is usually regarded as a benign lesion. CASE REPORTS: Two infants, 6 and 8 months old respectively, were hospitalized for neurological disorders revealing subdural hematoma. The first one was drowsy after an apparent life threatening event. The CT scan showed a recent subdural hematoma with ISSE. The outcome was spontaneously uneventful. The second patient presented a febrile hemiconvulsion preceding a status epilepticus. The diagnosis of empyema complicating subdural hematoma with ISSE was done on MRI. Recovery occurred after a 3 week course of parenteral antibiotics and 1 year of antiepileptic treatment. In these two cases, there was no history of head injury and the retrospective study of cranial perimeter growth curves showed acceleration before the acute event. CONCLUSION: The reputation of benignity is not usurped regarding the ISSE. Nevertheless, it must be recognized as a factor furthering emergence of subdural hematoma, even in absence of injury context.

Female↗

PubMed1997

Analysis of cDNAs encoding Drosophila melanogaster myosin light chain kinase.

Myosin light chain kinase regulates the activity of myosin by phosphorylating the myosin regulatory light chain. Here we describe the cloning and characterization of cDNAs encoding Drosophila melanogaster myosin light chain kinase. We amplified a fragment of the Drosophila mlck gene using degenerate primers homologous to a highly conserved region in myosin light chain kinase proteins of vertebrate species. We used the gene fragment to isolate corresponding Drosophila mlck cDNAs. The deduced protein sequence of the cDNAs shows high homology to the catalytic and regulatory domains of vertebrate nonmuscle, smooth muscle and skeletal muscle myosin light chain kinase. Protein motifs I and II, which are present in vertebrate nonmuscle and smooth muscle myosin light chain kinase, but not in skeletal muscle myosin light chain kinase, are also present in Drosophila myosin light chain kinase. Transcript and cDNA analysis shows the gene encodes multiple messages and is expressed in nonmuscle and muscle cells, including the adult indirect flight muscle. Genomic Southern analysis and chromosome hybridization suggest mlck is a single copy gene which maps to chromosome band 52D, and is not haplo-insufficient for flight.

Amino Acid Sequence↗

PubMed1997

Vaccinia virus membrane proteins p8 and p16 are cotranslationally inserted into the rough endoplasmic reticulum and retained in the intermediate compartment.

The use of two-dimensional gel electrophoresis has identified the gene products A14L (p16) and A13L (p8) as abundant membrane proteins of the first infectious form of vaccinia virus, the intracellular mature virus (IMV; O. N. Jensen, T. Houthaeve, A. Shevchenko, S. Cudmore, T. Ashford, M. Mann, G. Griffiths, J. Krijnse Locker, J. Virol. 70:7485-7497, 1996). In this study, these two proteins were characterized in detail. In infected cells, both proteins localize not only to the viral membranes but also to tubular-cisternal membranes of the intermediate compartment, defined by the use of antibodies to either rab1A or p21, which colocalize with rab1A (J. Krijnse Locker, S. Schleich, D. Rodriguez, B. Goud, E. J. Snijder, and G. Griffiths, J. Biol. Chem. 271:14950-14958, 1996). Both proteins appear to reach this destination via cotranslational insertion into the rough endoplasmic reticulum, as shown by in vitro translation and translocation experiments. Whereas p16 probably spans the membrane twice, p8 is inserted into the membrane by means of its single NH2-terminal hydrophobic domain, adopting a topology which leaves the C terminus exposed to the cytoplasm. Combined immunocytochemical and biochemical data show that p16 is a member of the inner of the two IMV membrane layers, whereas p8 localizes to both the inner and the outer membrane. These findings are discussed with respect to our model of IMV membrane assembly.

Blotting, Western↗

PubMed1997

Identification of a Val 145 Ile substitution in the human myelin oligodendrocyte glycoprotein: lack of association with multiple sclerosis. The Réseau de Recherche Clinique INSERM sur la Susceptibilité Génétique à la Sclérose en Plaques.

Myelin/oligodendrocyte glycoprotein (MOG) is a major target antigen in experimental autoimmune encephalomyelitis and it has been suggested that it may as well play a key role in the demyelination process in multiple sclerosis (MS). As MOG variants could be pathogenic in autoimmune demyelinating diseases of the central nervous system, we analysed the coding sequence of MOG in MS patients and described a G-->A transition occurring in exon 3 of the human MOG gene. The mutation predicts that isoleucine substitutes for a valine at codon 145 (Val 145 Ile) in the transmembrane region of the protein. This is the first aminoacid substitution reported in human MOG. The polymorphism can be detected by restriction enzyme digestion of genomic DNA or reverse-transcribed PCR amplified products, making it a simple tool to detect a potential implication of MOG alleles in susceptibility to MS by association study. The analysis of 83 unrelated MS patients and 82 unrelated healthy controls showed that the polymorphism is found in similar proportions in MS patients (18%) and controls (14.6%). It is therefore unlikely that the MOG Val 145 Ile variant is responsible for genetic susceptibility to MS.

Amino Acid Sequence↗

PubMed1997

Nutritional management of patients with acute renal failure.

Patients with acute renal failure are at high risk for developing malnutrition. Provision of adequate nutrition support begins with an understanding of the metabolic alterations that occur due to the disease state and renal replacement therapies. Assessment of nutritional requirements and implementation of appropriate feeding modalities can lead to optimal nutritional status and positive patient outcomes. Building collaborative relationships with other health care professionals is crucial to overcoming the barriers that hinder implementation of appropriate nutritional management.

Acute Kidney Injury↗

PubMed1996

Trials of 9-amino-20(S)-camptothecin in Boston.

9-Amino-20(S)-camptothecin (9-AC) is an analog of camptothecin with limited water solubility which has shown significant preclinical activity in a variety of human solid tumor xenografts. A Phase I trial using a soluble formulation of 9-AC, given as a 72-hour continuous infusion, has been completed. Thirty-one patients with resistant cancers received 5-60 micrograms/M2/h at three week intervals. The Maximum Tolerated Dose (MTD) was 45 micrograms/M2/hour. Neutropenia was the dose limiting toxicity, with few significant non-myelosuppressive toxicities. Minor responses were seen in 3/31 patients. Pharmacokinetic studies of 9-AC lactone (closed ring) showed substantial interpatient variability with a predicted half-life of 36 hours. A phase I/II trial of the same formulation of 9-AC is ongoing in refractory leukemia. Stomatitis and diarrhea are the non-myelosuppressive dose limiting toxicities. Evidence of antineoplastic activity has been seen in 3/15 patients. A Phase II trial in previously untreated metastatic breast cancer is also underway. A Phase I trial of a colloidal dispersion formulation, not yet completed, is better tolerated with a MTD > 45 micrograms/M2/h as a 72-hour continuous infusion. Evidence of antineoplastic activity has also been demonstrated.

Adult↗

PubMed1996

Characterization of in vivo primary and secondary CD8+ T cell responses induced by recombinant influenza and vaccinia viruses.

We characterized the in vivo primary and secondary murine CD8+ T cell responses induced by immunization with influenza and vaccinia viruses, which were engineered to express the same H-2K(k)- and H-2K(d)-restricted epitopes. Our results show that the induction and magnitude of the primary CD8+ T cell response closely depends on the viral dose used for immunization, while it is not affected by the route of immunization. The induction of secondary CD8+ T cell responses appears to be highly restricted, as suggested by the lack of in vivo expansion of antigen-specific CD8+ T cells after repeated immunization with the same virus. In contrast, a 20- to 30-fold increase in the frequency of antigen-specific CD8+ T cells could be induced after combined immunization with recombinant influenza and vaccinia viruses. These findings may provide the basis for the development of new prophylactic and therapeutic strategies to prevent or control intracellular infections and certain malignancies.

Animals↗

PubMed1996

Predictors of resource utilization for hospitalized patients with Pneumocystis carinii pneumonia (PCP): a summary of effects from the multi-city study of quality of PCP care.

To determine whether patient and hospital characteristics were significantly associated with variations in Pneumocystis carinii (PCP) care and outcomes, we analyzed the use of diagnostic tests, intensive care units (ICUs), anti-PCP medications for persons hospitalized with human immunodeficiency virus (HIV)-related PCP, and hospital discharge status. We conducted retrospective chart reviews of a cohort of 2,174 patients with PCP hospitalized in 1987-1990. Outcomes included process of care for PCP and in-hospital mortality rates. Persons with PCP who were more severely ill at admission were more likely to have early medical care, to receive care in an intensive care unit, and to die in hospital. After we adjusted for differences in this severity of illness, we noted that Medicaid patients, injection drug users (IDUs), and patients treated at VA or county hospitals were significantly less likely than others to have diagnostic bronchoscopies and that persons covered by Medicaid, with a previous diagnosis of acquired immunodeficiency syndrome (AIDS), who did not receive prior zidovudine (AZT) or who received care in a VA hospital had the highest chances of in-hospital death. Insurance and risk group characteristics, severity of illness, and hospital characteristics appear to be the most important determinants of the intensity and timing of medical care and outcomes among patients hospitalized with PCP.

AIDS-Related Opportunistic Infections↗